Canonical Allele Identifier: PA2827766144
Gene: SCN1A HGNC NCBI
ClinVar RCV:
RCV000180984
ClinVar Variation:
190028
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Tyr1263Ser
CA303594
NM_001353950.2:c.3788A>C